Variant report

Variant	rs7143507
Chromosome Location	chr14:31868262-31868263
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10148667	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10151837	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10782377	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17091513	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17097889	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17097906	0.82[JPT][hapmap]
rs17555805	0.82[JPT][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2378861	0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4981843	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571419	0.93[AMR][1000 genomes]
rs6571420	0.81[ASN][1000 genomes]
rs6571422	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7142126	0.91[AMR][1000 genomes]
rs7150876	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7151099	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
4	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
5	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
7	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
13	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
14	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
15	chr14:31837200-31871800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:31838000-31875000	Weak transcription	K562	blood
17	chr14:31841400-31872800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:31841600-31872200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr14:31847000-31878600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:31847600-31875000	Weak transcription	Stomach Mucosa	stomach
21	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:31851000-31872600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:31851200-31870400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:31851200-31872400	Strong transcription	HepG2	liver
25	chr14:31851600-31872800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:31853000-31870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:31853000-31870400	Weak transcription	Brain Angular Gyrus	brain
28	chr14:31853200-31875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:31853200-31880600	Weak transcription	HSMMtube	muscle
30	chr14:31853600-31870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:31854600-31880600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
33	chr14:31858600-31868800	Weak transcription	GM12878-XiMat	blood
34	chr14:31859200-31871800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:31859200-31872000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:31859200-31875200	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:31859200-31880600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:31859400-31871600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:31859800-31871600	Strong transcription	Adipose Nuclei	Adipose
40	chr14:31859800-31871600	Strong transcription	Liver	Liver
41	chr14:31859800-31871800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:31860000-31871000	Strong transcription	Osteobl	bone
43	chr14:31860200-31871800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:31860400-31869600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:31860400-31871600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:31861200-31868400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:31861600-31872000	Strong transcription	Placenta	Placenta
48	chr14:31861600-31888400	Weak transcription	Psoas Muscle	Psoas
49	chr14:31862400-31869000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:31862800-31869800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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